2009
Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease
Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease. Journal Of Child Neurology 2009, 24: 618-624. PMID: 19151366, DOI: 10.1177/0883073808327833.Peer-Reviewed Original ResearchConceptsPelizaeus-Merzbacher diseaseBrain magnetic resonance imaging studiesNovel PLP1 mutationMagnetic resonance imaging studyResonance imaging studyVariable clinical expressionSpastic quadriplegiaSymptomatic patientsCerebral palsyProteolipid protein 1Clinical expressionFamily historyClinical informationDiffuse dysmyelinationPsychomotor delayPLP1 mutationsProteolipid protein 1 geneCerebellar ataxiaNovel missense mutationImaging studiesUnaffected childrenMaternal grandmotherPreimplantation genetic diagnosisMaternal uncleProtein 1 gene
2007
Medical Legal Issues in Prenatal Diagnosis
Klein RD, Mahoney MJ. Medical Legal Issues in Prenatal Diagnosis. Clinics In Perinatology 2007, 34: 287-297. PMID: 17572235, DOI: 10.1016/j.clp.2007.03.006.Peer-Reviewed Original Research
2002
The comprehensive midtrimester test: High-sensitivity down syndrome test
Bahado-Singh R, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The comprehensive midtrimester test: High-sensitivity down syndrome test. American Journal Of Obstetrics And Gynecology 2002, 186: 803-808. PMID: 11967511, DOI: 10.1067/mob.2002.121651.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlgorithmsAlpha-FetoproteinsAmniocentesisChorionic GonadotropinChorionic Gonadotropin, beta Subunit, HumanDown SyndromeEstriolFalse Positive ReactionsFemaleGestational AgeHumansNeckPregnancyPregnancy Trimester, SecondPrenatal DiagnosisSensitivity and SpecificityUltrasonography, PrenatalConceptsDown syndrome casesDown syndrome detectionMaternal ageSyndrome casesSyndrome detectionStepwise logistic regression analysisReceiver-operating characteristic curveBeta-core fragmentAdvanced maternal ageLogistic regression analysisDown syndrome riskLow-risk screeningFalse positive rateDifferent age groupsGestational ageLarge trialsSignificant markersSyndrome riskStudy groupNuchal thicknessClinical valueUltrasound biometryGenetic amniocentesisSmall studySonographic anomalies